Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
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Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberPathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyThe SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.SCN8A mutation in a child presenting with seizures and developmental delaysAxonal Membranes and Their Domains: Assembly and Function of the Axon Initial Segment and Node of Ranvier.SCN8A encephalopathy: Research progress and prospectsReduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics.Incidence of Dravet Syndrome in a US Population.Single amino acid deletion in transmembrane segment D4S6 of sodium channel Scn8a (Nav1.6) in a mouse mutant with a chronic movement disorder.A gain-of-function mutation in Nav1.6 in a case of trigeminal neuralgiaGene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathyNeuronal hyperexcitability in a mouse model of SCN8A epileptic encephalopathy.Voltage-Gated Na+ Channels: Not Just for Conduction.Current view on regulation of voltage-gated sodium channels by calcium and auxiliary proteins.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Altered gene expression profile in a mouse model of SCN8A encephalopathy.Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study.Genetic Basis of Sudden Unexpected Death in Epilepsy.SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresPrecision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.Aberrant epilepsy-associated mutant Nav1.6 sodium channel activity can be targeted with cannabidiol.The Expanding SCN8A-Related Epilepsy Phenotype.Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.Regulation of Thalamic and Cortical Network Synchrony by Scn8a.De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonusThe novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathyWhole-Exome Sequencing Implicates in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic ComplexityNovel and de novo mutations in pediatric refractory epilepsy
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P2860
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
@en
type
label
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
@en
prefLabel
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
@en
P2860
P356
P1476
Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.
@en
P2093
Jacy L Wagnon
Miriam H Meisler
P2860
P356
10.3389/FNEUR.2015.00104
P577
2015-05-15T00:00:00Z